DISEASES

Disease-gene associations mined from literature

Literature associating CNTN1 and multiple pterygium syndrome

CNTN1 [ENSP00000447006]

Neural cell surface protein F3; Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity); Belongs to the immunoglobulin superfamily. Contactin family.

Synonyms:  CNTN1,  CNTN1p,  hCNTN1,  A0A024R104,  CNTN1-001 ...

Linkouts:  STRING  Pharos  UniProt